Mutagenetix > Incidental Mutation

Incidental Mutation 'R7391:Cyp2c29'

573478

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c29

Ensembl Gene

ENSMUSG00000003053

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 29

Synonyms

AHOHase, Ahh-1, Ah-2, P450-2C, Cyp2c, AHOH

MMRRC Submission

045473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7391 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39275541-39319157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39296211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 214 (Q214L)

Ref Sequence

ENSEMBL: ENSMUSP00000003137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003137] [ENSMUST00000176624] [ENSMUST00000177087]

AlphaFold

Q64458

Predicted Effect

probably null
Transcript: ENSMUST00000003137
AA Change: Q214L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: Q214L

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	487	5.4e-165	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000176624
AA Change: Q175L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: Q175L

Domain	Start	End	E-Value	Type
Pfam:p450	12	448	2.7e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177087

SMART Domains

Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	118	8.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	A	T	10: 18,522,007 (GRCm39)	I673K	probably benign	Het
Arhgap32	C	A	9: 32,093,235 (GRCm39)	T196K	probably benign	Het
Azi2	T	A	9: 117,879,960 (GRCm39)		probably null	Het
B3gnt2	A	T	11: 22,786,482 (GRCm39)	C235*	probably null	Het
Capn5	C	T	7: 97,780,426 (GRCm39)	V315M	probably benign	Het
Ccl24	T	A	5: 135,599,676 (GRCm39)	R111S	possibly damaging	Het
Cdk9	A	G	2: 32,602,083 (GRCm39)	V45A	probably damaging	Het
Cep162	G	T	9: 87,130,547 (GRCm39)	S21*	probably null	Het
Chil3	T	A	3: 106,071,496 (GRCm39)	Y56F	probably damaging	Het
Ctr9	T	A	7: 110,642,378 (GRCm39)	L368*	probably null	Het
Ctss	A	G	3: 95,436,852 (GRCm39)	E45G	probably benign	Het
Cyp2d34	T	A	15: 82,502,587 (GRCm39)	N183I	probably benign	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Elp1	C	A	4: 56,781,211 (GRCm39)	Q487H	possibly damaging	Het
Elp1	T	G	4: 56,781,212 (GRCm39)	Q487P	probably benign	Het
Ermp1	C	A	19: 29,604,468 (GRCm39)		probably null	Het
Ermp1	T	A	19: 29,604,469 (GRCm39)		probably null	Het
Evi2	A	G	11: 79,406,493 (GRCm39)	S361P	probably benign	Het
Ext2	T	A	2: 93,560,612 (GRCm39)	K518M	probably damaging	Het
Fgl1	A	C	8: 41,663,483 (GRCm39)	M15R	probably benign	Het
Fsip2	T	G	2: 82,820,663 (GRCm39)	D5465E	possibly damaging	Het
Hdlbp	A	T	1: 93,358,783 (GRCm39)	I256N	possibly damaging	Het
Hmmr	G	T	11: 40,598,613 (GRCm39)		probably null	Het
Hnrnpu	T	C	1: 178,164,643 (GRCm39)	Q165R	unknown	Het
Homer3	G	A	8: 70,742,134 (GRCm39)	A132T	probably benign	Het
Ift70a1	T	C	2: 75,810,359 (GRCm39)	K575E	probably benign	Het
Kcnb1	T	C	2: 166,947,370 (GRCm39)	R493G	probably damaging	Het
Kcnn3	A	T	3: 89,516,778 (GRCm39)	T396S	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krtap4-1	A	G	11: 99,518,810 (GRCm39)	S67P	unknown	Het
Lama4	G	T	10: 38,963,383 (GRCm39)		probably null	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Mical2	A	T	7: 111,919,816 (GRCm39)	E442V	probably damaging	Het
Muc16	C	T	9: 18,550,832 (GRCm39)	V5154I	probably benign	Het
Nav3	A	T	10: 109,539,317 (GRCm39)	M2028K	probably benign	Het
Ncr1	T	A	7: 4,347,470 (GRCm39)	W249R	possibly damaging	Het
Neurod6	T	C	6: 55,656,616 (GRCm39)	D7G	probably damaging	Het
Nwd1	A	G	8: 73,389,046 (GRCm39)	E158G	probably damaging	Het
Or10ak7	A	T	4: 118,791,198 (GRCm39)	N282K	possibly damaging	Het
Or2h15	A	T	17: 38,441,941 (GRCm39)	F47L	probably benign	Het
Or2t26	A	G	11: 49,039,806 (GRCm39)	T241A	probably damaging	Het
Or2y11	T	C	11: 49,443,371 (GRCm39)	S266P	probably damaging	Het
Or51a39	T	C	7: 102,363,189 (GRCm39)	N144D	probably benign	Het
Padi2	A	G	4: 140,665,266 (GRCm39)	D457G	probably benign	Het
Parn	C	A	16: 13,485,870 (GRCm39)		probably null	Het
Pcdh1	C	T	18: 38,335,838 (GRCm39)	E266K	possibly damaging	Het
Pigr	A	G	1: 130,777,303 (GRCm39)	D703G	probably damaging	Het
Ppm1f	T	A	16: 16,732,098 (GRCm39)	S183T	probably benign	Het
Ppp2r5b	T	A	19: 6,278,544 (GRCm39)	Q455L	probably benign	Het
Pramel20	T	A	4: 143,298,876 (GRCm39)	L273H	probably damaging	Het
Ptpn13	C	T	5: 103,688,847 (GRCm39)	S880L	probably damaging	Het
R3hdm4	T	C	10: 79,746,943 (GRCm39)	K240R	probably benign	Het
Rin1	T	C	19: 5,100,888 (GRCm39)	M1T	probably null	Het
Rundc3b	T	A	5: 8,609,455 (GRCm39)	M170L	probably benign	Het
Ryr3	A	T	2: 112,611,322 (GRCm39)		probably null	Het
Scn11a	T	C	9: 119,624,783 (GRCm39)	D513G	probably damaging	Het
Slc27a2	C	A	2: 126,395,082 (GRCm39)	P3Q	unknown	Het
Slc4a8	A	G	15: 100,682,743 (GRCm39)	I187M	probably damaging	Het
Slc6a11	A	T	6: 114,215,422 (GRCm39)	I441F	probably benign	Het
Stx2	C	T	5: 129,065,867 (GRCm39)	R263Q	probably damaging	Het
Svep1	A	T	4: 58,145,185 (GRCm39)	W427R	probably damaging	Het
Tes	T	A	6: 17,096,166 (GRCm39)	H51Q	probably damaging	Het
Thnsl2	T	C	6: 71,108,914 (GRCm39)	D299G	probably damaging	Het
Tmem30b	T	C	12: 73,592,702 (GRCm39)	S138G	probably benign	Het
Tmprss11c	T	A	5: 86,385,650 (GRCm39)	H274L	probably damaging	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Unc13b	A	G	4: 43,216,459 (GRCm39)	I253V	probably benign	Het
Unc80	A	G	1: 66,734,687 (GRCm39)	S3305G	probably benign	Het
Ush2a	TCACC	TC	1: 188,694,205 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,508,099 (GRCm39)	D267G	probably damaging	Het
Vmn1r46	C	T	6: 89,953,607 (GRCm39)	S152L	probably benign	Het
Wdr90	T	C	17: 26,065,502 (GRCm39)	N1621S	probably benign	Het
Zfhx3	G	A	8: 109,674,475 (GRCm39)	A1842T	probably damaging	Het
Zfp583	A	G	7: 6,319,498 (GRCm39)	S505P	probably damaging	Het
Zfp608	T	C	18: 55,030,619 (GRCm39)	Y1107C	possibly damaging	Het
Zfp616	A	G	11: 73,976,155 (GRCm39)	H808R	probably benign	Het
Zfp677	T	C	17: 21,618,653 (GRCm39)	F570S	possibly damaging	Het
Zfp85	A	T	13: 67,897,410 (GRCm39)	Y221N	probably damaging	Het

Other mutations in Cyp2c29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cyp2c29	APN	19	39,310,143 (GRCm39)	splice site	probably benign
IGL00482:Cyp2c29	APN	19	39,313,467 (GRCm39)	missense	probably damaging	0.97
IGL00694:Cyp2c29	APN	19	39,310,079 (GRCm39)	missense	possibly damaging	0.64
IGL00836:Cyp2c29	APN	19	39,313,434 (GRCm39)	missense	probably damaging	0.98
IGL00858:Cyp2c29	APN	19	39,296,100 (GRCm39)	missense	probably damaging	1.00
IGL01350:Cyp2c29	APN	19	39,318,771 (GRCm39)	missense	probably damaging	1.00
IGL01455:Cyp2c29	APN	19	39,317,561 (GRCm39)	missense	possibly damaging	0.89
IGL01718:Cyp2c29	APN	19	39,318,704 (GRCm39)	missense	possibly damaging	0.48
IGL01977:Cyp2c29	APN	19	39,279,341 (GRCm39)	splice site	probably benign
IGL01991:Cyp2c29	APN	19	39,318,759 (GRCm39)	missense	probably damaging	1.00
IGL02097:Cyp2c29	APN	19	39,296,064 (GRCm39)	missense	probably damaging	1.00
IGL02267:Cyp2c29	APN	19	39,318,866 (GRCm39)	missense	probably benign	0.19
IGL02451:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02452:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02548:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02549:Cyp2c29	APN	19	39,298,229 (GRCm39)	missense	possibly damaging	0.48
IGL02938:Cyp2c29	APN	19	39,275,567 (GRCm39)	missense	probably damaging	0.99
IGL03252:Cyp2c29	APN	19	39,275,619 (GRCm39)	missense	probably damaging	1.00
IGL03367:Cyp2c29	APN	19	39,317,659 (GRCm39)	missense	probably damaging	0.97
H8562:Cyp2c29	UTSW	19	39,298,106 (GRCm39)	missense	probably damaging	1.00
IGL03052:Cyp2c29	UTSW	19	39,275,662 (GRCm39)	missense	possibly damaging	0.90
R0415:Cyp2c29	UTSW	19	39,317,539 (GRCm39)	splice site	probably benign
R0504:Cyp2c29	UTSW	19	39,298,224 (GRCm39)	missense	probably benign	0.29
R0690:Cyp2c29	UTSW	19	39,298,170 (GRCm39)	missense	probably benign	0.00
R1531:Cyp2c29	UTSW	19	39,313,412 (GRCm39)	missense	probably damaging	1.00
R1730:Cyp2c29	UTSW	19	39,313,389 (GRCm39)	missense	possibly damaging	0.79
R1981:Cyp2c29	UTSW	19	39,296,216 (GRCm39)	splice site	probably null
R2113:Cyp2c29	UTSW	19	39,318,708 (GRCm39)	missense	probably damaging	1.00
R2220:Cyp2c29	UTSW	19	39,275,676 (GRCm39)	missense	probably benign	0.09
R3873:Cyp2c29	UTSW	19	39,317,588 (GRCm39)	missense	probably damaging	0.99
R4424:Cyp2c29	UTSW	19	39,275,620 (GRCm39)	missense	probably damaging	0.98
R4451:Cyp2c29	UTSW	19	39,279,270 (GRCm39)	missense	probably damaging	0.99
R4803:Cyp2c29	UTSW	19	39,313,439 (GRCm39)	missense	probably benign	0.01
R5288:Cyp2c29	UTSW	19	39,318,816 (GRCm39)	missense	probably damaging	0.96
R5474:Cyp2c29	UTSW	19	39,313,436 (GRCm39)	missense	probably damaging	1.00
R5475:Cyp2c29	UTSW	19	39,318,731 (GRCm39)	missense	possibly damaging	0.91
R5893:Cyp2c29	UTSW	19	39,318,833 (GRCm39)	missense	possibly damaging	0.93
R5894:Cyp2c29	UTSW	19	39,318,833 (GRCm39)	missense	possibly damaging	0.93
R6000:Cyp2c29	UTSW	19	39,296,050 (GRCm39)	critical splice acceptor site	probably null
R6144:Cyp2c29	UTSW	19	39,310,053 (GRCm39)	missense	possibly damaging	0.96
R6296:Cyp2c29	UTSW	19	39,318,705 (GRCm39)	missense	possibly damaging	0.64
R6365:Cyp2c29	UTSW	19	39,296,198 (GRCm39)	missense	probably damaging	1.00
R6449:Cyp2c29	UTSW	19	39,279,311 (GRCm39)	missense	probably benign	0.05
R6464:Cyp2c29	UTSW	19	39,317,669 (GRCm39)	missense	probably damaging	0.96
R6919:Cyp2c29	UTSW	19	39,279,585 (GRCm39)	missense	probably benign	0.26
R6978:Cyp2c29	UTSW	19	39,310,107 (GRCm39)	missense	probably damaging	1.00
R7038:Cyp2c29	UTSW	19	39,275,571 (GRCm39)	missense	probably benign	0.01
R7040:Cyp2c29	UTSW	19	39,318,781 (GRCm39)	missense	possibly damaging	0.95
R8712:Cyp2c29	UTSW	19	39,310,138 (GRCm39)	critical splice donor site	probably benign
R8863:Cyp2c29	UTSW	19	39,261,810 (GRCm39)	missense	probably benign	0.00
R9468:Cyp2c29	UTSW	19	39,296,166 (GRCm39)	missense	probably benign	0.07
X0024:Cyp2c29	UTSW	19	39,310,043 (GRCm39)	missense	probably benign	0.01
Z1176:Cyp2c29	UTSW	19	39,313,441 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTTAGCTGTTAGGAAAATTGTAGGC -3'
(R):5'- AGCCAACCTAGCCTTTGTCC -3'

Sequencing Primer
(F):5'- GTAGGCAAGATATGGTTTAAAACTCC -3'
(R):5'- GTCCTTCAGATTTTCTATTGGCATAG -3'

Posted On

2019-09-13